title: The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra.
abstract: Thalassemia has been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. In this report, the prevalence of common β-thalassemia mutations in India was defined in 126 β-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common β-thalassemia mutations were detected, which included IVS I-5 (G-C), IVS I-1 (G-T), codon 8-9 (+G), codon 41/42 (-TCTT), Codon 15 (G-A), and 619 bp deletion at 3' end of β-globin gene. These mutations accounted for 93.66 % in 126 β-thalassemia carrier subjects and 6.34 % remained uncharacterized. Out of 126, 82 (65.07 %) showed the most common (prevalent) type of mutation, IVS I-5 (G-C), followed by IVS I-1 (G-T) showed by 12 (9.52 %) subjects. Three (2.38 %) subjects showed 619 bp deletion, codon 8/9 (+G) and codon 15 (G-A) mutations were present in eight subjects each (6.34 %). Only five (3.96 %) subjects showed codon 41/42 (-TCTT). There were eight (6.34 %) subjects where mutation was not any of the six mutations studied. This study provides the pattern of β thalassemia mutations from south-western Maharashtra, which will help to prevent β-thalassemia using prenatal diagnosis and proper counseling.
authors.affiliation: Department of Biochemistry, Government Medical College, Sangli, Miraj, Maharashtra India.
authors.forename: Sandeep B
authors.initials: SB
authors.lastname: Satpute
authors.forename: Mangesh P
authors.initials: MP
authors.lastname: Bankar
authors.forename: Abdulrahaman A
authors.initials: AA
authors.lastname: Momin
keywords: Mutations; Prenatal diagnosis; South-western Maharashtra; β-Thalassemia; β-Thalassemia carrier